Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

BACKGROUND: Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overla...

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Detalles Bibliográficos
Autores principales: Campens, Laurence, Callewaert, Bert, Muiño Mosquera, Laura, Renard, Marjolijn, Symoens, Sofie, De Paepe, Anne, Coucke, Paul, De Backer, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326194/
https://www.ncbi.nlm.nih.gov/pubmed/25644172
http://dx.doi.org/10.1186/s13023-014-0221-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326194/
https://www.ncbi.nlm.nih.gov/pubmed/25644172
http://dx.doi.org/10.1186/s13023-014-0221-6

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